Di Meo I - Search Results

1

Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathy.

Tiranti V, Viscomi C, Hildebrandt T, Di Meo I, Mineri R, Tiveron C, Levitt MD, Prelle A, Fagiolari G, Rimoldi M, Zeviani M. Tiranti V, et al. Among authors: di meo i. Nat Med. 2009 Feb;15(2):200-5. doi: 10.1038/nm.1907. Epub 2009 Jan 11. Nat Med. 2009. PMID: 19136963

2

Identification of new mutations in the ETHE1 gene in a cohort of 14 patients presenting with ethylmalonic encephalopathy.

Mineri R, Rimoldi M, Burlina AB, Koskull S, Perletti C, Heese B, von Döbeln U, Mereghetti P, Di Meo I, Invernizzi F, Zeviani M, Uziel G, Tiranti V. Mineri R, et al. Among authors: di meo i. J Med Genet. 2008 Jul;45(7):473-8. doi: 10.1136/jmg.2008.058271. J Med Genet. 2008. PMID: 18593870

3

Ethylmalonic encephalopathy: application of improved biochemical and molecular diagnostic approaches.

Drousiotou A, DiMeo I, Mineri R, Georgiou T, Stylianidou G, Tiranti V. Drousiotou A, et al. Clin Genet. 2011 Apr;79(4):385-90. doi: 10.1111/j.1399-0004.2010.01457.x. Clin Genet. 2011. PMID: 20528888

4

Chronic exposure to sulfide causes accelerated degradation of cytochrome c oxidase in ethylmalonic encephalopathy.

Di Meo I, Fagiolari G, Prelle A, Viscomi C, Zeviani M, Tiranti V. Di Meo I, et al. Antioxid Redox Signal. 2011 Jul 15;15(2):353-62. doi: 10.1089/ars.2010.3520. Epub 2011 Feb 25. Antioxid Redox Signal. 2011. PMID: 20812865

5

Morphologic evidence of diffuse vascular damage in human and in the experimental model of ethylmalonic encephalopathy.

Giordano C, Viscomi C, Orlandi M, Papoff P, Spalice A, Burlina A, Di Meo I, Tiranti V, Leuzzi V, d'Amati G, Zeviani M. Giordano C, et al. Among authors: di meo i. J Inherit Metab Dis. 2012 May;35(3):451-8. doi: 10.1007/s10545-011-9408-3. Epub 2011 Oct 22. J Inherit Metab Dis. 2012. PMID: 22020834

6

Effective AAV-mediated gene therapy in a mouse model of ethylmalonic encephalopathy.

Di Meo I, Auricchio A, Lamperti C, Burlina A, Viscomi C, Zeviani M. Di Meo I, et al. EMBO Mol Med. 2012 Sep;4(9):1008-14. doi: 10.1002/emmm.201201433. Epub 2012 Aug 20. EMBO Mol Med. 2012. PMID: 22903887 Free PMC article.

7

Proteome adaptations in Ethe1-deficient mice indicate a role in lipid catabolism and cytoskeleton organization via post-translational protein modifications.

Hildebrandt TM, Di Meo I, Zeviani M, Viscomi C, Braun HP. Hildebrandt TM, et al. Among authors: di meo i. Biosci Rep. 2013 Jul 25;33(4):e00052. doi: 10.1042/BSR20130051. Biosci Rep. 2013. PMID: 23800285 Free PMC article.

8

AAV-mediated liver-specific MPV17 expression restores mtDNA levels and prevents diet-induced liver failure.

Bottani E, Giordano C, Civiletto G, Di Meo I, Auricchio A, Ciusani E, Marchet S, Lamperti C, d'Amati G, Viscomi C, Zeviani M. Bottani E, et al. Among authors: di meo i. Mol Ther. 2014 Jan;22(1):10-7. doi: 10.1038/mt.2013.230. Epub 2013 Jul 3. Mol Ther. 2014. PMID: 24247928 Free PMC article.

9

Gene therapy using a liver-targeted AAV vector restores nucleoside and nucleotide homeostasis in a murine model of MNGIE.

Torres-Torronteras J, Viscomi C, Cabrera-Pérez R, Cámara Y, Di Meo I, Barquinero J, Auricchio A, Pizzorno G, Hirano M, Zeviani M, Martí R. Torres-Torronteras J, et al. Among authors: di meo i. Mol Ther. 2014 May;22(5):901-7. doi: 10.1038/mt.2014.6. Epub 2014 Jan 22. Mol Ther. 2014. PMID: 24448160 Free PMC article.

10

Mitochondrial diseases caused by toxic compound accumulation: from etiopathology to therapeutic approaches.

Di Meo I, Lamperti C, Tiranti V. Di Meo I, et al. EMBO Mol Med. 2015 Oct;7(10):1257-66. doi: 10.15252/emmm.201505040. EMBO Mol Med. 2015. PMID: 26194912 Free PMC article. Review.

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